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Replies to "@lisakaypowers Can I ask what genetic muscle disorder this is? Does it have a name? I..."
Fibromyalgia | Last Active: 3 hours ago | Replies (11)
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@jakefix82
Myotonic Congenita: There are two types.
Thomsen disease: A milder, autosomal dominant form that presents early in childhood.
Becker disease: An autosomal recessive form that usually appears later.
I would say even if a person doesn't have major issues due to this, it can effect your bodies response to anesthesia so if you would need surgery, it is good to let the dr's know if you have this.
They said Dystrophic Myotonia 2 is also one that appears later and has very similar symptoms of Fibromyalgia.
The variant that came back for me was on the CLCN1 gene. While the variant that showed up on mine was not known as well, Variant of Uncertain Significance, the doctor and report stated that any variant on this gene can produce disease or symptoms. How significant of an impact remains to be seen for me but for others if they have the more common one, it could be very significant.
Reading about these different diseases or genetic issues doesn't seem as problematic or altering, however for those of us who suffer with Fibro or ME/CFS, manifestations of genetics is so varied in everyone that it definitely could be significant. For some they may never have symptoms or problems, for others might be worse. This may be something that just adds difficulty to treatment, but for me it did explain why I had scoliosis and other odd symptoms throughout my life.
Sorry for the ramble - It has all been new info for me, but definitely something I have NOT ever read on any of the website, forums, books or anything else regarding Fibromyalgia until I had this injury and then sent to a neuromuscular specialist.